Hawkins A L, Miller C B, Burke P J, Griffin C A
Johns Hopkins Oncology Center, Baltimore, Maryland 21205.
Cancer Genet Cytogenet. 1991 Jul 1;54(1):11-20. doi: 10.1016/0165-4608(91)90024-o.
We report a case of erythroleukemia (EL;FAB M6), preceded by a myelodysplastic phase, in a 50-year-old male 8 years after treatment for Hodgkin's lymphoma. Cytogenetic analysis of bone marrow at time of diagnosis of EL revealed three cell lines: 1) 28 of 53 cells (53%) were hypodiploid, 43,XY,-5,-7,-12; 2) 23 of 53 cells (43%) were near-triploid, stemline 67-69,XY,+2,del(5)(q11.2),+del(5)(q11.2),+6,-7,+8,-9,-11,-12,+15,-16,der (17)t (17;?) (p11.2;?),-18,-20,-20,+22,+r, + mar (relative to a complete triploid cell); 3) 2 of 53 cells (4%) were normal 46,XY. The relative monosomies of 5, 7, and 12 in both abnormal lines suggest that the near-triploid line evolved from the hypodiploid line. A single hypodiploid cell with both del(5) and der(17) chromosomes that appeared identical to those in the near-triploid line suggests that polyploidization occurred after these structural rearrangements. While EL is not characterized by any well-defined structural abnormality, reported cases are frequently hypodiploid, with occasional cases of polyploidization, as in our patient, EL in adults without previous neoplasia or recognized mutagenic exposure has been shown to have loss or deletion of chromosomes 5 and 7, also characteristic of myelodysplastic syndromes and secondary leukemia. Our patient had a relative lack of chromosomes 5 and 7 in both abnormal clones, as well as a del(5)(q11) in the near-triploid line. This case of EL clearly demonstrates the evolution of a complex near-triploid line from a hypodiploid line, with chromosome abnormalities typical of both EL and secondary leukemia.
我们报告一例红白血病（EL；FAB M6），该患者在接受霍奇金淋巴瘤治疗8年后，50岁男性，之前经历过骨髓增生异常阶段。EL诊断时骨髓的细胞遗传学分析显示有三种细胞系：1）53个细胞中的28个（53%）为亚二倍体，核型为43,XY,-5,-7,-12；2）53个细胞中的23个（43%）为近三倍体，干系为67 - 69,XY,+2,del(5)(q11.2),+del(5)(q11.2),+6,-7,+8,-9,-11,-12,+15,-16,der(17)t(17;?)(p11.2;?),-18,-20,-20,+22,+r,+mar（相对于一个完整的三倍体细胞）；3）53个细胞中的2个（4%）为正常的46,XY。两个异常细胞系中均出现5号、7号和12号染色体的相对单体性，提示近三倍体细胞系由亚二倍体细胞系演变而来。一个同时具有del(5)和der(17)染色体的亚二倍体细胞，其染色体与近三倍体细胞系中的染色体相同，提示在这些结构重排之后发生了多倍体化。虽然EL没有任何明确的结构异常特征，但报道的病例通常为亚二倍体，偶尔有多倍体化的情况，如我们的患者，在没有既往肿瘤或已知诱变暴露的成人EL病例中，已显示存在5号和7号染色体的缺失，这也是骨髓增生异常综合征和继发性白血病的特征。我们的患者两个异常克隆中均相对缺乏5号和7号染色体，并且在近三倍体细胞系中有del(5)(q11)。这例EL病例清楚地展示了一个复杂的近三倍体细胞系从亚二倍体细胞系的演变过程，伴有EL和继发性白血病典型的染色体异常。
